rs12503643

This is a regulatory region variant variant in the ACSL1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

ovulation

D'Urso S et al. “Mendelian randomization analysis of factors related to ovulation and reproductive function and endometrial cancer risk.” Bmc Medicine 20(1):419 (2022)

Allele T

OR 0.28

p 5.0e-14

N 118,227

Large GWAS

European

About ACSL1

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

View all ACSL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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